Phenotype #0000045422

Individual ID 00058833
Associated disease JBTS
Phenotype details She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Strabismus is reported.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Enza Maria Valente
Database submission license No license selected
Created by Enza Maria Valente
Date created 2016-02-08 12:28:00 +01:00 (CET)
Date last edited 2016-02-12 02:06:06 +01:00 (CET)

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